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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WNK4 Gene

protein-coding   GIFtS: 59
GCID: GC17P040932

WNK lysine deficient protein kinase 4

(Previous names: protein kinase, lysine deficient 4 )
(Previous symbol: PRKWNK4)
 Explore 16 diseases affiliated with
WNK4 via our new
 Human Malady Compendium 
Biological research products
for WNK4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
WNK Lysine Deficient Protein Kinase 41 2     PHA2B2 5
PRKWNK41 2 3 5     Protein Kinase, Lysine Deficient 41
Protein Kinase Lysine-Deficient 42 3     Serine/Threonine-Protein Kinase WNK42
Protein Kinase With No Lysine 42 3     EC 2.7.118
EC 2.7.11.13 8     

External Ids:    HGNC: 145441   Entrez Gene: 652662   Ensembl: ENSG000001265627   OMIM: 6018445   UniProtKB: Q96J923   

Export aliases for WNK4 gene to outside databases

Previous GC identifers: GC17P038188 GC17P036697


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WNK4:
This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight
junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase
regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux
in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
Function: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell
signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters
and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6.
Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to
prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent
mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4
appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to
maintain integrated homeostasis. Phosphorylates NEDD4L

Gene Wiki entry for WNK4


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WNK4 gene promoter:
         STAT1   Pax-5   SREBP-1c   STAT1beta   CUTL1   STAT1alpha   SREBP-1b   Roaz   SREBP-1a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWNK4 promoter sequence
   Search SABiosciences Chromatin IP Primers for WNK4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WNK4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21-q22   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21-q22

WNK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WNK4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040932:  view genomic region     (about GC identifiers)

Start:
40,932,649 bp from pter      End:
40,949,084 bp from pter
Size:
16,436 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase WNK4  
Size: 1243 amino acids; 134739 Da
Cofactor: Magnesium (By similarity)
Subunit: Interacts with the C-terminal region of KCNJ1 (By similarity). Interacts with WNK1 and WNK3 (By similarity)
Subcellular location: Cell junction, tight junction (By similarity). Note=Present exclusively in intercellular
junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical
collecting duct. WNK4 is part of the tight junction complex (By similarity)
Caution: Cys-203 is present instead of the conserved Lys which is expected to be an active site residue. Lys-186
appears to fulfill the required catalytic function
Sequence caution: Sequence=BAC04669.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAC48387.1; Type=Frameshift; Positions=4;
1 PDB 3D structure from and Proteopedia for WNK4:
2V3S (3D)    
Secondary accessions: Q8N8X3 Q8N8Z2 Q96DT8 Q9BYS5
Alternative splicing: 3 isoforms:  Q96J92-1   Q96J92-2   Q96J92-3   (No experimental confirmation available. Incomplete sequence)

Explore the universe of human proteins at neXtProt for WNK4: NX_Q96J92

Post-translational modifications:

  • Phosphorylated by WNK1 and WNK3 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96J92

  • 4/10 DME Specific Peptides for WNK4 (Q96J92) (see all 10)
     EYPYSEC  ILHRDLK  EIGRGSF  FGMCMLEM 

    WNK4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115763.2  
    ENSEMBL proteins: 
     ENSP00000246914   ENSP00000467088   ENSP00000467312  

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    Uscn Proteins for WNK4

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005923tight junction ISS--


    WNK4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for WNK4


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    WNK4 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011009 Kinase-like_dom
     IPR024678 Kinase_OSR1/WNK_CCT
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q96J92

    ProtoNet protein and cluster: Q96J92

    UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily
    Similarity: Contains 1 protein kinase domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
    Function: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell
    signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters
    and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6.
    Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to
    prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent
    mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4
    appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to
    maintain integrated homeostasis. Phosphorylates NEDD4L
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Activation requires autophosphorylation of Ser-335. Phosphorylation of Ser-331 also promotes
    increased activity (By similarity)

    Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate WNK4 (see all 11):
    hsa-miR-140-5p hsa-miR-502-5p hsa-miR-563 hsa-miR-26b* hsa-miR-1291 hsa-miR-380* hsa-miR-654-5p hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidWNK4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WNK4

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0005515protein binding ----
    GO:0005524ATP binding ISS--


    WNK4 for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for WNK4:
     Increased cell death HMECs cel  Increased cell spreading  Increased colony dispersion (i  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for WNK4: Wnk4tm2.1Suc Wnk4tm1Pfi
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Wnk4):
     cardiovascular system  homeostasis/metabolism  no phenotypic analysis  renal/urinary system 

    WNK4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion Tight junctions
    Cell adhesion Tight junctions1.00
    Cell adhesion_Tight junctions0.99
    2Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics1.00
    3PI3K / Akt Signaling
    PI3K / Akt Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for WNK4
        Cell adhesion Tight junctions


    1 Cell Signaling Technology (CST) Pathway for WNK4
        PI3K / Akt Signaling

    1 GeneGo (Thomson Reuters) Pathway for WNK4
        Cell adhesion Tight junctions

    1 PharmGKB Pathway for WNK4
        Diuretics Pathway, Pharmacodynamics


    WNK4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WNK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/55 Interacting proteins for WNK4 (Q96J922, 3 ENSP000002469144) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXSR1O957472, 3, ENSP000003117134MINT-5207699 MINT-5207631 MINT-5207540 MINT-5207597 MINT-5207682 MINT-5207580 MINT-5207648 MINT-5207716 MINT-5207665 MINT-5207614 MINT-5207558 I2D: score=1 STRING: ENSP00000311713
    YWHAQP273482, 3, ENSP000002380814MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    STK39Q9UEW83, ENSP000003482784I2D: score=3 STRING: ENSP00000348278
    SLC12A3P550173, ENSP000002625024I2D: score=1 STRING: ENSP00000262502
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ISS--
    GO:0006811ion transport ISS--
    GO:0006821chloride transport IEA--
    GO:0007243intracellular protein kinase cascade ISS--
    GO:0008104protein localization IEA--


    WNK4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    WNK4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WNK4

    4 HMDB Compounds for WNK4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    ChlorineCl2 (see all 13)16887-00-6--
    MagnesiumMagnesium (see all 2)7439-95-4--
    9 Novoseek chemical compound relationships for WNK4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiazide 71 2 15639021 (1), 17975670 (1)
    lysine 68.9 19 15639021 (2), 14769928 (2), 14616768 (1), 19706464 (1) (see all 11)
    nacl 59.7 18 15841204 (2), 19401467 (2), 15796898 (2), 16820787 (1) (see all 13)
    threonine 58 3 19690383 (1), 18547946 (1), 17647025 (1)
    potassium 55.8 14 15300163 (3), 15639021 (1), 18695394 (1), 15081430 (1) (see all 10)
    chloride 48.9 6 15300163 (3), 15639021 (1), 15637347 (1), 17194447 (1)
    serine 45.8 3 19690383 (1), 19706464 (1), 18547946 (1)
    sodium 42.1 5 18277144 (2), 15639021 (1), 18695394 (1), 19690383 (1)
    proline 39.9 2 16173916 (1), 19587141 (1)

    Search CenterWatch for drugs/clinical trials and news about WNK4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for WNK4 gene: 
    NM_032387.4  

    Unigene Cluster for WNK4:

    WNK lysine deficient protein kinase 4
    Hs.105448  [show with all ESTs]
    Unigene Representative Sequence: NM_032387
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246914(uc002ibj.3 uc010wgx.2 uc002ibk.1 uc010wgy.1)
    ENST00000591448 ENST00000592669 ENST00000587705 ENST00000592072 ENST00000587745


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    Additional cDNA sequence: 

    AF390018.1 AJ309861.1 AJ316534.1 AK096003.1 AK096052.1 AK301963.1 BC136664.1 BC144356.1 

    6 DOTS entries:

    DT.91746101  DT.100022245  DT.95224531  DT.100789457  DT.92025546  DT.92052927 

    24/66 AceView cDNA sequences (see all 66):

    BM683764 AA687630 NM_032387 AJ316534 AK096003 AW135316 AI244885 AA877924 
    CA388931 CA388932 AJ309861 AF390018 BX118400 AA513292 AI650786 AL041763 
    CD633911 BG824713 CD633905 CD633909 AA700228 AW275318 BQ446383 CD633901 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WNK4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    WNK4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyDistal TubuleDistal Tubule CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See WNK4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WNK4

    SOURCE GeneReport for Unigene cluster: Hs.105448

    UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
    Tissue specificity: Expressed in kidney, colon and skin

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WNK4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for WNK4 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC7775801 serine/threonine-protein kinase WNK4-like 64.06(n)
    62.8(a)
      777580  XM_003642827.1  XP_003642875.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    WNK46
    --
    9(a)
    34(a)
    possible ortholog
    1 ↔ 1
    1(205439218-205490633)
    6(62130032-62275525)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003309531 serine/threonine-protein kinase WNK4-like 62.63(n)
    60.61(a)
      100330953  XM_002663887.2  XP_002663933.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Wnk6
    --
    11(a)
    1 → many
    3L(21536950-21548028)
    worm
    (Caenorhabditis elegans)
    Secernentea wnk-16
    mammalian WNK-type protein kinase homolog family m...
    17(a)
    1 → many
    IV(9200100-9212216)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G555606
    WNK36
    (see all 11)
    putative serine/threonine-protein kinase WNK3
    (see all 11)
    40(a)
    33(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    5(22506302-22507879)
    3(17873012-17875220)
    rice
    (Oryza sativa)
    Liliopsida AK100930.12   -- 73.32(n)    AK100930.1 


    ENSEMBL Gene Tree for WNK4 (if available)
    TreeFam Gene Tree for WNK4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WNK4 gene
    WNK12  NRBP12  WNK22  NRBP22  WNK32  
    18/26 SIMAP similar genes for WNK4 using alignment to 4 protein entries:     WNK4_HUMAN (see all proteins) (see all similar genes):
    CAMK2A    PKN2    BRAF    STK11    NEK6    NEK9
    ULK1    STK25    WNK2    BRSK2    MAPK3    NRBP2
    CDK3    CDK4    MARK4    STK17A    DAPK1    NEK7

    WNK4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/395 NCBI SNPs in WNK4 are shown (see all 395    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378530931,2
    Cpathogenic40939503(+) AGCCAA/GAGGCA 2 K E mis10--------
    rs1378530941,2
    Cpathogenic40939510(+) GGCAGA/CCCAGC 2 D A mis10--------
    rs1378530921,2
    Cpathogenic40939512(+) CAGACC/GAGCAC 2 Q E mis10--------
    rs1378530951,2
    Cpathogenic40948262(+) CCAGCC/TGCCAG 2 R C mis10--------
    rs1134063871,2
    C,--40930659(+) ATTTTC/TACGGC 2 -- int1 us2k12Minor allele frequency- T:0.04CSA WA 120
    rs617542831,2
    F--40930827(+) GGAGTG/ACCTGG 2 -- int1 us2k13Minor allele frequency- A:0.00NS 2236
    rs617542841,2
    F--40930851(+) CAGCTG/CTAGCA 2 -- us2k1 int13Minor allele frequency- C:0.00NS 2236
    rs617543061,2
    C,F,--40930888(+) CTCTGG/AGAGGT 2 -- int1 us2k13Minor allele frequency- A:0.03NS 2236
    rs2011452021,2
    --40930961(+) CCTATC/TTCTCC 2 -- int1 us2k10--------
    rs1397101821,2
    C,--40931092(+) GCAGGA/GACCTG 2 -- ut31 us2k10--------

    HapMap Linkage Disequilibrium report for WNK4 (40932649 - 40949084 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for WNK4: --
    Human Gene Mutation Database (HGMD): WNK4

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for WNK4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    WNK4 for disorders           About GeneDecksing

    OMIM gene information: 601844   
    OMIM disorders: 145260  
    UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
  • Defects in WNK4 are a cause of pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491]. PHAII is an autosomal
  • dominant disease characterized by severe hypertension, hyperkalemia, and sensitivity to thiazide diuretics which may
    result from a chloride shunt in the renal distal nephron

    16 diseases for WNK4:    About MalaCards
    pseudohypoaldosteronism    glucocorticoid-remediable aldosteronism    pseudohypoaldosteronism type iib    pseudohypoaldosteronism type ii
    autosomal dominant disease    essential hypertension    liddle syndrome    hypercalciuria
    hypertension    aldosteronism    cystic fibrosis    osteoporosis
    fibrosis    choroiditis    pancreatitis    loeys-dietz syndrome

    4 diseases from the University of Copenhagen DISEASES database for WNK4:
    Pseudohypoaldosteronism     Hypertension     Liddle syndrome     Metabolic acidosis

    9 Novoseek disease relationships for WNK4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoaldosteronism 96.5 23 15300163 (2), 16173916 (1), 15796898 (1), 19016006 (1) (see all 21)
    gordon syndrome 95 6 19470686 (1), 18277144 (1), 16683163 (1), 15866321 (1) (see all 6)
    hyperkalemia 87.2 21 15696009 (2), 12515852 (2), 17360471 (2), 18695394 (1) (see all 15)
    hyperchloremia 77.6 1 12515852 (1)
    genetic hypertension 68.3 3 15309683 (1), 16501604 (1)
    essential hypertension 60.4 10 19340547 (4), 14967840 (2), 12719438 (1), 15866321 (1) (see all 6)
    metabolic acidosis 56 1 12515852 (1)
    hypertension arterial 31.7 2 16173916 (1), 18701621 (1)
    hypotension 1.69 2 15309683 (1)

    Genetic Association Database (GAD): WNK4
    Human Genome Epidemiology (HuGE) Navigator: WNK4 (12 documents)

    Export disorders for WNK4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WNK4 gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with WNK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. (PubMed id 15309683)1, 4, 9 Kokubo Y....Miyata T. (2004)
    2. Genetic variants of WNK4 in whites and African Americans with hypertension. (PubMed id 12719438)1, 4, 9 Erlich P.M....DeStefano A.L. (2003)
    3. WNK4 intron 10 polymorphism is not associated with hypertension. (PubMed id 14967840)1, 4, 9 Speirs H.J. and Morris B.J. (2004)
    4. The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. (PubMed id 15824464)1, 4, 9 Matayoshi T....Kawano Y. (2004)
    5. Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. (PubMed id 14616768)1, 4, 9 Benjafield A.V....Morris B.J. (2003)
    6. Serum and glucocorticoid-induced kinase (SGK) 1 and t he epithelial sodium channel are regulated by multiple with no lysine (WNK) fam ily members. (PubMed id 20525693)1, 2 Heise C.J....Cobb M.H. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. [Correlation analysis between WNK4 gene and essential hypertension] (PubMed id 12905707)1, 4 Sun Z.J....Zhao Y.Y. (2003)
    9. WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. (PubMed id 11571656)1, 2 Verissimo F. and Jordan P. (2001)
    10. Human hypertension caused by mutations in WNK kinases. (PubMed id 11498583)1, 2 Wilson F.H.... Lifton R.P. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 65266 HGNC: 14544 AceView: PRKWNK4 Ensembl:ENSG00000126562 euGenes: HUgn65266
    ECgene: WNK4 H-InvDB: WNK4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WNK4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNK4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for WNK4 gene:
    Search GeneIP for patents involving WNK4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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